Canonical Allele Identifier: CA150037464

Gene: IYD

Linked Data

• dbSNP Id: rs996696423
• gnomAD v2: 6-150710576-G-C
• gnomAD v3: 6-150389440-G-C
• gnomAD v4: 6-150389440-G-C
• MyVariant Identifiers: chr6:g.150710576G>C (hg19) ; chr6:g.150389440G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.150389440G>C , CM000668.2:g.150389440G>C	GRCh38
NC_000006.11:g.150710576G>C , CM000668.1:g.150710576G>C	GRCh37
NC_000006.10:g.150752269G>C	NCBI36
NG_016007.1:g.25549G>C
NG_016007.2:g.25549G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000344419.8:c.267G>C MANE Select	ENSP00000343763.4:p.Arg89Ser
ENST00000229447.9:c.267G>C	ENSP00000229447.5:p.Arg89Ser
ENST00000344419.7:c.267G>C	ENSP00000343763.3:p.Arg89Ser
ENST00000367335.7:c.267G>C	ENSP00000356304.3:p.Arg89Ser
ENST00000392255.7:c.267G>C	ENSP00000376084.3:p.Arg89Ser
ENST00000392256.6:c.267G>C	ENSP00000376085.2:p.Arg89Ser
ENST00000422583.2:c.144G>C	ENSP00000397342.2:p.Arg48Ser
ENST00000425615.3:c.102G>C	ENSP00000390081.3:p.Arg34Ser
ENST00000500320.7:c.267G>C	ENSP00000441276.1:p.Arg89Ser
ENST00000546121.1:n.210G>C
NM_001164694.1:c.267G>C	NP_001158166.1:p.Arg89Ser
NM_001164695.1:c.267G>C	NP_001158167.1:p.Arg89Ser
NM_203395.2:c.267G>C	NP_981932.1:p.Arg89Ser
XM_006715478.2:c.267G>C	XP_006715541.1:p.Arg89Ser
XM_006715479.2:c.102G>C	XP_006715542.1:p.Arg34Ser
XR_245516.3:n.430G>C
NM_001318495.1:c.89G>C	NP_001305424.1:p.Gly30Ala
NR_134655.1:n.407G>C
XM_006715478.3:c.267G>C	XP_006715541.1:p.Arg89Ser
XM_006715479.3:c.102G>C	XP_006715542.1:p.Arg34Ser
NM_001164694.2:c.267G>C	NP_001158166.1:p.Arg89Ser
NM_001164695.2:c.267G>C	NP_001158167.1:p.Arg89Ser
NM_001318495.2:c.89G>C	NP_001305424.1:p.Gly30Ala
NM_203395.3:c.267G>C MANE Select	NP_981932.1:p.Arg89Ser
NR_134655.2:n.287G>C