Canonical Allele Identifier: CA481715238

Gene: MVK

Linked Data

• dbSNP Id: rs1394751897
• gnomAD v2: 12-110032859-T-C
• MyVariant Identifiers: chr12:g.110032859T>C (hg19) ; chr12:g.109595054T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.109595054T>C , CM000674.2:g.109595054T>C	GRCh38
NC_000012.11:g.110032859T>C , CM000674.1:g.110032859T>C	GRCh37
NC_000012.10:g.108517242T>C	NCBI36
NG_007702.1:g.26360T>C , LRG_156:g.26360T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000539696.6:c.69T>C	ENSP00000439134.1:p.His23=
ENST00000546277.6:c.912T>C	ENSP00000438153.2:p.His304=
ENST00000636529.2:n.551T>C
ENST00000697195.1:c.*676T>C	ENSP00000513181.1:n.*676T>C
ENST00000697196.1:c.*85T>C	ENSP00000513182.1:n.*85T>C
ENST00000697197.1:n.2941T>C
ENST00000697198.1:n.1296T>C
ENST00000228510.8:c.912T>C MANE Select	ENSP00000228510.3:p.His304=
ENST00000636529.1:c.537T>C
ENST00000636996.1:c.760T>C
ENST00000228510.7:c.912T>C	ENSP00000228510.3:p.His304=
ENST00000392727.7:c.756T>C	ENSP00000376487.3:p.His252=
ENST00000447878.6:c.*359T>C	ENSP00000415555.2:n.*359T>C
ENST00000537237.5:c.*585T>C	ENSP00000445382.1:n.*585T>C
ENST00000539575.4:c.912T>C	ENSP00000443551.2:p.His304=
ENST00000539696.5:c.69T>C	ENSP00000439134.1:p.His23=
ENST00000540353.1:n.3145T>C
ENST00000625889.2:c.756T>C	ENSP00000486846.1:p.His252=
ENST00000629016.2:c.*359T>C	ENSP00000486804.1:n.*359T>C
NM_000431.3:c.912T>C	NP_000422.1:p.His304=
NM_001114185.2:c.912T>C	NP_001107657.1:p.His304=
NM_001301182.1:c.756T>C	NP_001288111.1:p.His252=
XM_011538372.1:c.912T>C	XP_011536674.1:p.His304=
XM_017019313.2:c.756T>C	XP_016874802.1:p.His252=
XM_017019314.1:c.912T>C	XP_016874803.1:p.His304=
NM_000431.4:c.912T>C MANE Select	NP_000422.1:p.His304=
NM_001114185.3:c.912T>C	NP_001107657.1:p.His304=
NM_001301182.2:c.756T>C	NP_001288111.1:p.His252=