Canonical Allele Identifier: CA386635777

Gene: MMAB

Linked Data

• MyVariant Identifiers: chr12:g.109994936C>T (hg19) ; chr12:g.109557131C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557131C>T , CM000674.2:g.109557131C>T	GRCh38
NC_000012.11:g.109994936C>T , CM000674.1:g.109994936C>T	GRCh37
NC_000012.10:g.108479319C>T	NCBI36
NG_007096.1:g.21367G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.650G>A MANE Select	ENSP00000445920.1:p.Ser217Asn
ENST00000537496.5:c.*215G>A	ENSP00000444793.1:n.*215G>A
ENST00000540016.5:c.494G>A	ENSP00000474582.1:p.Ser165Asn
ENST00000541763.6:c.875G>A	ENSP00000474981.1:n.875G>A
ENST00000544051.5:c.*531G>A	ENSP00000438079.1:n.*531G>A
ENST00000545712.6:c.650G>A	ENSP00000445920.1:p.Ser217Asn
NM_052845.3:c.650G>A	NP_443077.1:p.Ser217Asn
NR_038118.1:n.810G>A
XM_011538266.1:c.495G>A	XP_011536568.1:p.Gln165=
XM_011538267.1:c.495G>A	XP_011536569.1:p.Gln165=
XM_011538268.1:c.377G>A	XP_011536570.1:p.Ser126Asn
XM_011538269.1:c.374G>A	XP_011536571.1:p.Ser125Asn
XM_011538267.3:c.495G>A	XP_011536569.1:p.Gln165=
XM_011538268.2:c.377G>A	XP_011536570.1:p.Ser126Asn
XM_011538269.2:c.374G>A	XP_011536571.1:p.Ser125Asn
NM_052845.4:c.650G>A MANE Select	NP_443077.1:p.Ser217Asn
NR_038118.2:n.761G>A