Canonical Allele Identifier: CA441717275

Gene: MMAA

Linked Data

• MyVariant Identifiers: chr4:g.146576310T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.145655158T>C , CM000666.2:g.145655158T>C	GRCh38
NC_000004.11:g.146576310T>C , CM000666.1:g.146576310T>C	GRCh37
NC_000004.10:g.146795760T>C	NCBI36
NG_007536.1:g.40861T>C
NG_007536.2:g.61117T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000541599.5:c.981T>C	ENSP00000442284.3:p.Ile327=
ENST00000647947.1:c.*765T>C	ENSP00000496781.1:n.*765T>C
ENST00000648388.1:c.981T>C	ENSP00000497046.1:p.Ile327=
ENST00000649156.2:c.981T>C MANE Select	ENSP00000497008.1:p.Ile327=
ENST00000649173.1:c.915T>C	ENSP00000497871.1:p.Ile305=
ENST00000649704.1:c.981T>C	ENSP00000497680.1:p.Ile327=
ENST00000679563.1:c.981T>C	ENSP00000506503.1:p.Ile327=
ENST00000679930.1:c.*500T>C	ENSP00000506293.1:n.*500T>C
ENST00000281317.9:c.981T>C	ENSP00000281317.5:p.Ile327=
ENST00000503730.1:n.391T>C
ENST00000511969.4:c.*112T>C	ENSP00000427422.1:n.*112T>C
ENST00000541599.4:c.981T>C	ENSP00000442284.2:p.Ile327=
NM_172250.2:c.981T>C	NP_758454.1:p.Ile327=
XM_011531684.1:c.981T>C	XP_011529986.1:p.Ile327=
XM_011531685.1:c.981T>C	XP_011529987.1:p.Ile327=
XM_011531686.1:c.486T>C	XP_011529988.1:p.Ile162=
NM_172250.3:c.981T>C MANE Select	NP_758454.1:p.Ile327=
XM_011531684.3:c.981T>C	XP_011529986.1:p.Ile327=
XM_011531685.2:c.981T>C	XP_011529987.1:p.Ile327=
XM_011531686.2:c.486T>C	XP_011529988.1:p.Ile162=
NM_001375644.1:c.981T>C	NP_001362573.1:p.Ile327=