Canonical Allele Identifier: CA114727184

Gene: ANKH

Linked Data

• dbSNP Id: rs766018206
• gnomAD v2: 5-14741959-C-T
• gnomAD v4: 5-14741850-C-T
• MyVariant Identifiers: chr5:g.14741959C>T (hg19) ; chr5:g.14741850C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14741850C>T , CM000667.2:g.14741850C>T	GRCh38
NC_000005.9:g.14741959C>T , CM000667.1:g.14741959C>T	GRCh37
NC_000005.8:g.14794959C>T	NCBI36
NG_008273.1:g.134929G>A
NG_008273.2:g.134936G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.988G>A MANE Select	ENSP00000284268.6:p.Val330Ile
ENST00000284268.6:c.988G>A	ENSP00000284268.6:p.Val330Ile
ENST00000503939.5:n.500G>A
ENST00000515517.1:n.222G>A
NM_054027.4:c.988G>A	NP_473368.1:p.Val330Ile
XM_011514067.1:c.988G>A	XP_011512369.1:p.Val330Ile
NM_054027.5:c.988G>A	NP_473368.1:p.Val330Ile
XM_017009644.2:c.904G>A	XP_016865133.1:p.Val302Ile
NM_054027.6:c.988G>A MANE Select	NP_473368.1:p.Val330Ile