Canonical Allele Identifier: CA6778750

Gene: MMAB

Linked Data

• dbSNP Id: rs186864802
• ExAC: 12:109994854 C / A
• gnomAD v4: 12-109557049-C-A
• MyVariant Identifiers: chr12:g.109994854C>A (hg19) ; chr12:g.109557049C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109557049C>A , CM000674.2:g.109557049C>A	GRCh38
NC_000012.11:g.109994854C>A , CM000674.1:g.109994854C>A	GRCh37
NC_000012.10:g.108479237C>A	NCBI36
NG_007096.1:g.21449G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.732G>T MANE Select	ENSP00000445920.1:p.Ser244=
ENST00000537496.5:c.*297G>T	ENSP00000444793.1:n.*297G>T
ENST00000540016.5:c.576G>T	ENSP00000474582.1:p.Ser192=
ENST00000541763.6:c.957G>T	ENSP00000474981.1:n.957G>T
ENST00000544051.5:c.*613G>T	ENSP00000438079.1:n.*613G>T
ENST00000545712.6:c.732G>T	ENSP00000445920.1:p.Ser244=
NM_052845.3:c.732G>T	NP_443077.1:p.Ser244=
NR_038118.1:n.892G>T
XM_011538266.1:c.*79G>T	XP_011536568.1:n.*79G>T
XM_011538267.1:c.*79G>T	XP_011536569.1:n.*79G>T
XM_011538268.1:c.459G>T	XP_011536570.1:p.Ser153=
XM_011538269.1:c.456G>T	XP_011536571.1:p.Ser152=
XM_011538267.3:c.*79G>T	XP_011536569.1:n.*79G>T
XM_011538268.2:c.459G>T	XP_011536570.1:p.Ser153=
XM_011538269.2:c.456G>T	XP_011536571.1:p.Ser152=
NM_052845.4:c.732G>T MANE Select	NP_443077.1:p.Ser244=
NR_038118.2:n.843G>T