Canonical Allele Identifier: CA358344759

Gene: MMAA

Linked Data

• dbSNP Id: rs201547892
• gnomAD v2: 4-146576306-G-T
• MyVariant Identifiers: chr4:g.146576306G>T (hg19) ; chr4:g.145655154G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145655154G>T , CM000666.2:g.145655154G>T	GRCh38
NC_000004.11:g.146576306G>T , CM000666.1:g.146576306G>T	GRCh37
NC_000004.10:g.146795756G>T	NCBI36
NG_007536.1:g.40857G>T
NG_007536.2:g.61113G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.977G>T	ENSP00000442284.3:p.Arg326Leu
ENST00000647947.1:c.*761G>T	ENSP00000496781.1:n.*761G>T
ENST00000648388.1:c.977G>T	ENSP00000497046.1:p.Arg326Leu
ENST00000649156.2:c.977G>T MANE Select	ENSP00000497008.1:p.Arg326Leu
ENST00000649173.1:c.911G>T	ENSP00000497871.1:p.Arg304Leu
ENST00000649704.1:c.977G>T	ENSP00000497680.1:p.Arg326Leu
ENST00000679563.1:c.977G>T	ENSP00000506503.1:p.Arg326Leu
ENST00000679930.1:c.*496G>T	ENSP00000506293.1:n.*496G>T
ENST00000281317.9:c.977G>T	ENSP00000281317.5:p.Arg326Leu
ENST00000503730.1:n.387G>T
ENST00000511969.4:c.*108G>T	ENSP00000427422.1:n.*108G>T
ENST00000541599.4:c.977G>T	ENSP00000442284.2:p.Arg326Leu
NM_172250.2:c.977G>T	NP_758454.1:p.Arg326Leu
XM_011531684.1:c.977G>T	XP_011529986.1:p.Arg326Leu
XM_011531685.1:c.977G>T	XP_011529987.1:p.Arg326Leu
XM_011531686.1:c.482G>T	XP_011529988.1:p.Arg161Leu
NM_172250.3:c.977G>T MANE Select	NP_758454.1:p.Arg326Leu
XM_011531684.3:c.977G>T	XP_011529986.1:p.Arg326Leu
XM_011531685.2:c.977G>T	XP_011529987.1:p.Arg326Leu
XM_011531686.2:c.482G>T	XP_011529988.1:p.Arg161Leu
NM_001375644.1:c.977G>T	NP_001362573.1:p.Arg326Leu