Canonical Allele Identifier: CA358346016

Gene: MMAA

Linked Data

• dbSNP Id: rs1131692023
• gnomAD v2: 4-146576433-G-T
• gnomAD v3: 4-145655281-G-T
• gnomAD v4: 4-145655281-G-T
• MyVariant Identifiers: chr4:g.146576433G>T (hg19) ; chr4:g.145655281G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145655281G>T , CM000666.2:g.145655281G>T	GRCh38
NC_000004.11:g.146576433G>T , CM000666.1:g.146576433G>T	GRCh37
NC_000004.10:g.146795883G>T	NCBI36
NG_007536.1:g.40984G>T
NG_007536.2:g.61240G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.1104G>T	ENSP00000442284.3:p.Trp368Cys
ENST00000647947.1:c.*888G>T	ENSP00000496781.1:n.*888G>T
ENST00000648388.1:c.1104G>T	ENSP00000497046.1:p.Trp368Cys
ENST00000649156.2:c.1104G>T MANE Select	ENSP00000497008.1:p.Trp368Cys
ENST00000649173.1:c.1038G>T	ENSP00000497871.1:p.Trp346Cys
ENST00000649704.1:c.1104G>T	ENSP00000497680.1:p.Trp368Cys
ENST00000679563.1:c.1104G>T	ENSP00000506503.1:p.Trp368Cys
ENST00000679930.1:c.*623G>T	ENSP00000506293.1:n.*623G>T
ENST00000281317.9:c.1104G>T	ENSP00000281317.5:p.Trp368Cys
ENST00000503730.1:n.514G>T
ENST00000511969.4:c.*235G>T	ENSP00000427422.1:n.*235G>T
ENST00000541599.4:c.1104G>T	ENSP00000442284.2:p.Trp368Cys
NM_172250.2:c.1104G>T	NP_758454.1:p.Trp368Cys
XM_011531684.1:c.1104G>T	XP_011529986.1:p.Trp368Cys
XM_011531685.1:c.1104G>T	XP_011529987.1:p.Trp368Cys
XM_011531686.1:c.609G>T	XP_011529988.1:p.Trp203Cys
NM_172250.3:c.1104G>T MANE Select	NP_758454.1:p.Trp368Cys
XM_011531684.3:c.1104G>T	XP_011529986.1:p.Trp368Cys
XM_011531685.2:c.1104G>T	XP_011529987.1:p.Trp368Cys
XM_011531686.2:c.609G>T	XP_011529988.1:p.Trp203Cys
NM_001375644.1:c.1104G>T	NP_001362573.1:p.Trp368Cys