Canonical Allele Identifier: CA365359629

Gene: REV3L MFSD4B

Linked Data

• gnomAD v4: 6-111405482-C-A
• MyVariant Identifiers: chr6:g.111726685C>A (hg19) ; chr6:g.111405482C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.111405482C>A , CM000668.2:g.111405482C>A	GRCh38
NC_000006.11:g.111726685C>A , CM000668.1:g.111726685C>A	GRCh37
NC_000006.10:g.111833378C>A	NCBI36
NG_053000.1:g.83234G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000368802.8:c.553G>T (REV3L) MANE Select	ENSP00000357792.3:p.Ala185Ser
ENST00000673446.1:n.248-35221C>A (MFSD4B)
ENST00000358835.7:c.553G>T (REV3L)	ENSP00000351697.3:p.Ala185Ser
ENST00000368802.7:c.553G>T (REV3L)	ENSP00000357792.3:p.Ala185Ser
ENST00000368805.5:c.553G>T (REV3L)	ENSP00000357795.1:p.Ala185Ser
ENST00000422377.5:c.*537G>T (REV3L)	ENSP00000393184.1:n.*537G>T
ENST00000434009.5:c.*644G>T (REV3L)	ENSP00000391605.1:n.*644G>T
ENST00000435970.5:c.319G>T (REV3L)	ENSP00000402003.1:p.Ala107Ser
ENST00000460981.1:n.151G>T (REV3L)
ENST00000494858.1:n.226G>T (REV3L)
NM_001286431.1:c.319G>T (REV3L)	NP_001273360.1:p.Ala107Ser
NM_001286432.1:c.319G>T (REV3L)	NP_001273361.1:p.Ala107Ser
NM_002912.4:c.553G>T (REV3L)	NP_002903.3:p.Ala185Ser
XM_006715543.2:c.553G>T (REV3L)	XP_006715606.1:p.Ala185Ser
XM_006715544.2:c.319G>T (REV3L)	XP_006715607.1:p.Ala107Ser
XM_011536028.1:c.553G>T (REV3L)	XP_011534330.1:p.Ala185Ser
XM_011536029.1:c.553G>T (REV3L)	XP_011534331.1:p.Ala185Ser
XM_011536030.1:c.553G>T (REV3L)	XP_011534332.1:p.Ala185Ser
XM_011536031.1:c.319G>T (REV3L)	XP_011534333.1:p.Ala107Ser
XM_011536032.1:c.319G>T (REV3L)	XP_011534334.1:p.Ala107Ser
XM_011536033.1:c.553G>T (REV3L)	XP_011534335.1:p.Ala185Ser
XM_011536034.1:c.553G>T (REV3L)	XP_011534336.1:p.Ala185Ser
XM_011536035.1:c.553G>T (REV3L)	XP_011534337.1:p.Ala185Ser
XM_011536036.1:c.553G>T (REV3L)	XP_011534338.1:p.Ala185Ser
XR_942545.1:n.1102G>T (REV3L)
XR_942546.1:n.1102G>T (REV3L)
XM_011536028.2:c.553G>T (REV3L)	XP_011534330.1:p.Ala185Ser
XM_011536029.3:c.553G>T (REV3L)	XP_011534331.1:p.Ala185Ser
XM_011536030.3:c.553G>T (REV3L)	XP_011534332.1:p.Ala185Ser
XM_011536031.3:c.319G>T (REV3L)	XP_011534333.1:p.Ala107Ser
XM_011536032.2:c.319G>T (REV3L)	XP_011534334.1:p.Ala107Ser
XM_011536036.3:c.553G>T (REV3L)	XP_011534338.1:p.Ala185Ser
XM_017011152.2:c.319G>T (REV3L)	XP_016866641.1:p.Ala107Ser
XM_017011153.1:c.319G>T (REV3L)	XP_016866642.1:p.Ala107Ser
XM_017011154.1:c.319G>T (REV3L)	XP_016866643.1:p.Ala107Ser
XM_017011155.2:c.553G>T (REV3L)	XP_016866644.1:p.Ala185Ser
XR_001743550.2:n.849G>T (REV3L)
XR_001743552.2:n.849G>T (REV3L)
XR_001743553.2:n.849G>T (REV3L)
XR_001743554.2:n.849G>T (REV3L)
XR_001743555.2:n.849G>T (REV3L)
XR_001743556.2:n.849G>T (REV3L)
XR_002956293.1:n.849G>T (REV3L)
NM_001286431.2:c.319G>T (REV3L)	NP_001273360.1:p.Ala107Ser
NM_001372078.1:c.553G>T (REV3L) MANE Select	NP_001359007.1:p.Ala185Ser
NM_001286432.2:c.319G>T (REV3L)	NP_001273361.1:p.Ala107Ser
NM_002912.5:c.553G>T (REV3L)	NP_002903.3:p.Ala185Ser