Canonical Allele Identifier: CA6778842

Gene: MMAB

Linked Data

• ClinVar Variation Id: 445684
• ClinVar RCV Id: RCV000514970 ; RCV000671507
• dbSNP Id: rs140881518
• ExAC: 12:109998908 G / A
• gnomAD v2: 12-109998908-G-A
• gnomAD v3: 12-109561103-G-A
• gnomAD v4: 12-109561103-G-A
• MyVariant Identifiers: chr12:g.109998908G>A (hg19) ; chr12:g.109561103G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109561103G>A , CM000674.2:g.109561103G>A	GRCh38
NC_000012.11:g.109998908G>A , CM000674.1:g.109998908G>A	GRCh37
NC_000012.10:g.108483291G>A	NCBI36
NG_007096.1:g.17395C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000545712.7:c.521C>T MANE Select	ENSP00000445920.1:p.Ser174Leu
ENST00000537496.5:c.*86C>T	ENSP00000444793.1:n.*86C>T
ENST00000540016.5:c.365C>T	ENSP00000474582.1:p.Ser122Leu
ENST00000541763.6:c.746C>T	ENSP00000474981.1:n.746C>T
ENST00000544051.5:c.*402C>T	ENSP00000438079.1:n.*402C>T
ENST00000545712.6:c.521C>T	ENSP00000445920.1:p.Ser174Leu
NM_052845.3:c.521C>T	NP_443077.1:p.Ser174Leu
NR_038118.1:n.681C>T
XM_011538266.1:c.366C>T	XP_011536568.1:p.Val122=
XM_011538267.1:c.366C>T	XP_011536569.1:p.Val122=
XM_011538268.1:c.248C>T	XP_011536570.1:p.Ser83Leu
XM_011538269.1:c.245C>T	XP_011536571.1:p.Ser82Leu
XM_011538267.3:c.366C>T	XP_011536569.1:p.Val122=
XM_011538268.2:c.248C>T	XP_011536570.1:p.Ser83Leu
XM_011538269.2:c.245C>T	XP_011536571.1:p.Ser82Leu
XM_024448961.1:c.521C>T	XP_024304729.1:p.Ser174Leu
NM_052845.4:c.521C>T MANE Select	NP_443077.1:p.Ser174Leu
NR_038118.2:n.632C>T