Canonical Allele Identifier: CA951707708

Gene: MVK MMAB

Linked Data

• dbSNP Id: rs1884753030
• gnomAD v3: 12-109573503-C-G
• gnomAD v4: 12-109573503-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109573503C>G , CM000674.2:g.109573503C>G	GRCh38
NC_000012.11:g.110011308C>G , CM000674.1:g.110011308C>G	GRCh37
NC_000012.10:g.108495691C>G	NCBI36
NG_007096.1:g.4995G>C
NG_007702.1:g.4809C>G , LRG_156:g.4809C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546277.6:c.-83C>G (MVK)	ENSP00000438153.2:n.-83C>G
ENST00000545712.7:c.-23G>C (MMAB) MANE Select	ENSP00000445920.1:n.-23G>C
ENST00000503497.7:c.-23G>C (MMAB)	ENSP00000474881.1:n.-23G>C
ENST00000535044.1:n.163C>G (MVK)
ENST00000537236.2:c.-23G>C (MMAB)	ENSP00000483818.1:n.-23G>C
ENST00000537496.5:c.-23G>C (MMAB)	ENSP00000444793.1:n.-23G>C
ENST00000539335.5:c.-74C>G (MVK)	ENSP00000440379.1:n.-74C>G
ENST00000542390.5:n.5G>C (MMAB)
ENST00000544051.5:c.-23G>C (MMAB)	ENSP00000438079.1:n.-23G>C
ENST00000545712.6:c.-23G>C (MMAB)	ENSP00000445920.1:n.-23G>C
ENST00000546277.5:c.-83C>G (MVK)	ENSP00000438153.1:n.-83C>G
NM_052845.3:c.-23G>C (MMAB)	NP_443077.1:n.-23G>C
NR_038118.1:n.51G>C (MMAB)
XM_011538372.1:c.-83C>G (MVK)	XP_011536674.1:n.-83C>G
XM_017019313.2:c.-83C>G (MVK)	XP_016874802.1:n.-83C>G
XM_024448961.1:c.-23G>C (MMAB)	XP_024304729.1:n.-23G>C
XM_024448982.1:c.-83C>G (MVK)	XP_024304750.1:n.-83C>G
NM_052845.4:c.-23G>C (MMAB) MANE Select	NP_443077.1:n.-23G>C
NR_038118.2:n.2G>C (MMAB)