Canonical Allele Identifier: CA405313396

Gene: MAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.35302613T>C , CM000681.2:g.35302613T>C	GRCh38
NC_000019.9:g.35793516T>C , CM000681.1:g.35793516T>C	GRCh37
NC_000019.8:g.40485356T>C	NCBI36
NG_034078.1:g.15528T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002361.4:c.1136T>C MANE Select	NP_002352.1:p.Leu379Pro
ENST00000392213.8:c.1136T>C MANE Select	ENSP00000376048.2:p.Leu379Pro
NM_001199216.1:c.1061T>C	NP_001186145.1:p.Leu354Pro
NM_001199216.2:c.1061T>C	NP_001186145.1:p.Leu354Pro
NM_002361.3:c.1136T>C	NP_002352.1:p.Leu379Pro
NM_080600.2:c.1136T>C	NP_542167.1:p.Leu379Pro
NM_080600.3:c.1136T>C	NP_542167.1:p.Leu379Pro
ENST00000361922.8:c.1136T>C	ENSP00000355234.4:p.Leu379Pro
ENST00000392213.7:c.1136T>C	ENSP00000376048.2:p.Leu379Pro
ENST00000537831.2:c.1061T>C	ENSP00000440695.1:p.Leu354Pro