Canonical Allele Identifier: CA2062459062

Gene: MVK MMAB

Linked Data

• dbSNP Id: rs1884761973

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109573581T>C , CM000674.2:g.109573581T>C	GRCh38
NC_000012.11:g.110011386T>C , CM000674.1:g.110011386T>C	GRCh37
NC_000012.10:g.108495769T>C	NCBI36
NG_007096.1:g.4917A>G
NG_007702.1:g.4887T>C , LRG_156:g.4887T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000546277.6:c.-15+10T>C (MVK)	ENSP00000438153.2:n.-15+10T>C
ENST00000535044.1:n.231+10T>C (MVK)
ENST00000539335.5:c.-6+10T>C (MVK)	ENSP00000440379.1:n.-6+10T>C
ENST00000545712.6:c.-101A>G (MMAB)	ENSP00000445920.1:n.-101A>G
ENST00000546277.5:c.-15+10T>C (MVK)	ENSP00000438153.1:n.-15+10T>C
XM_011538372.1:c.-15+10T>C (MVK)	XP_011536674.1:n.-15+10T>C
XM_017019313.2:c.-15+10T>C (MVK)	XP_016874802.1:n.-15+10T>C
XM_024448982.1:c.-15+10T>C (MVK)	XP_024304750.1:n.-15+10T>C