Canonical Allele Identifier: CA358345030

Gene: MMAA

Linked Data

• MyVariant Identifiers: chr4:g.146576341A>C (hg19) ; chr4:g.145655189A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145655189A>C , CM000666.2:g.145655189A>C	GRCh38
NC_000004.11:g.146576341A>C , CM000666.1:g.146576341A>C	GRCh37
NC_000004.10:g.146795791A>C	NCBI36
NG_007536.1:g.40892A>C
NG_007536.2:g.61148A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.1012A>C	ENSP00000442284.3:p.Met338Leu
ENST00000647947.1:c.*796A>C	ENSP00000496781.1:n.*796A>C
ENST00000648388.1:c.1012A>C	ENSP00000497046.1:p.Met338Leu
ENST00000649156.2:c.1012A>C MANE Select	ENSP00000497008.1:p.Met338Leu
ENST00000649173.1:c.946A>C	ENSP00000497871.1:p.Met316Leu
ENST00000649704.1:c.1012A>C	ENSP00000497680.1:p.Met338Leu
ENST00000679563.1:c.1012A>C	ENSP00000506503.1:p.Met338Leu
ENST00000679930.1:c.*531A>C	ENSP00000506293.1:n.*531A>C
ENST00000281317.9:c.1012A>C	ENSP00000281317.5:p.Met338Leu
ENST00000503730.1:n.422A>C
ENST00000511969.4:c.*143A>C	ENSP00000427422.1:n.*143A>C
ENST00000541599.4:c.1012A>C	ENSP00000442284.2:p.Met338Leu
NM_172250.2:c.1012A>C	NP_758454.1:p.Met338Leu
XM_011531684.1:c.1012A>C	XP_011529986.1:p.Met338Leu
XM_011531685.1:c.1012A>C	XP_011529987.1:p.Met338Leu
XM_011531686.1:c.517A>C	XP_011529988.1:p.Met173Leu
NM_172250.3:c.1012A>C MANE Select	NP_758454.1:p.Met338Leu
XM_011531684.3:c.1012A>C	XP_011529986.1:p.Met338Leu
XM_011531685.2:c.1012A>C	XP_011529987.1:p.Met338Leu
XM_011531686.2:c.517A>C	XP_011529988.1:p.Met173Leu
NM_001375644.1:c.1012A>C	NP_001362573.1:p.Met338Leu