Canonical Allele Identifier: CA358345054

Gene: MMAA

Linked Data

• gnomAD v4: 4-145655191-G-C
• MyVariant Identifiers: chr4:g.146576343G>C (hg19) ; chr4:g.145655191G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145655191G>C , CM000666.2:g.145655191G>C	GRCh38
NC_000004.11:g.146576343G>C , CM000666.1:g.146576343G>C	GRCh37
NC_000004.10:g.146795793G>C	NCBI36
NG_007536.1:g.40894G>C
NG_007536.2:g.61150G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.1014G>C	ENSP00000442284.3:p.Met338Ile
ENST00000647947.1:c.*798G>C	ENSP00000496781.1:n.*798G>C
ENST00000648388.1:c.1014G>C	ENSP00000497046.1:p.Met338Ile
ENST00000649156.2:c.1014G>C MANE Select	ENSP00000497008.1:p.Met338Ile
ENST00000649173.1:c.948G>C	ENSP00000497871.1:p.Met316Ile
ENST00000649704.1:c.1014G>C	ENSP00000497680.1:p.Met338Ile
ENST00000679563.1:c.1014G>C	ENSP00000506503.1:p.Met338Ile
ENST00000679930.1:c.*533G>C	ENSP00000506293.1:n.*533G>C
ENST00000281317.9:c.1014G>C	ENSP00000281317.5:p.Met338Ile
ENST00000503730.1:n.424G>C
ENST00000511969.4:c.*145G>C	ENSP00000427422.1:n.*145G>C
ENST00000541599.4:c.1014G>C	ENSP00000442284.2:p.Met338Ile
NM_172250.2:c.1014G>C	NP_758454.1:p.Met338Ile
XM_011531684.1:c.1014G>C	XP_011529986.1:p.Met338Ile
XM_011531685.1:c.1014G>C	XP_011529987.1:p.Met338Ile
XM_011531686.1:c.519G>C	XP_011529988.1:p.Met173Ile
NM_172250.3:c.1014G>C MANE Select	NP_758454.1:p.Met338Ile
XM_011531684.3:c.1014G>C	XP_011529986.1:p.Met338Ile
XM_011531685.2:c.1014G>C	XP_011529987.1:p.Met338Ile
XM_011531686.2:c.519G>C	XP_011529988.1:p.Met173Ile
NM_001375644.1:c.1014G>C	NP_001362573.1:p.Met338Ile