Canonical Allele Identifier: CA805272866

Gene: ANKH

Linked Data

• dbSNP Id: rs1192737466
• gnomAD v3: 5-14716973-C-T
• gnomAD v4: 5-14716973-C-T
• MyVariant Identifiers: chr5:g.14717082C>T (hg19) ; chr5:g.14716973C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14716973C>T , CM000667.2:g.14716973C>T	GRCh38
NC_000005.9:g.14717082C>T , CM000667.1:g.14717082C>T	GRCh37
NC_000005.8:g.14770082C>T	NCBI36
NG_008273.1:g.159806G>A
NG_008273.2:g.159813G>A
NG_051625.1:g.61180C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1012-138G>A MANE Select	ENSP00000284268.6:n.1012-138G>A
ENST00000284268.6:c.1012-138G>A	ENSP00000284268.6:n.1012-138G>A
ENST00000502585.1:n.116G>A
NM_054027.4:c.1012-138G>A	NP_473368.1:n.1012-138G>A
NM_054027.5:c.1012-138G>A	NP_473368.1:n.1012-138G>A
XM_017009644.2:c.928-138G>A	XP_016865133.1:n.928-138G>A
NM_054027.6:c.1012-138G>A MANE Select	NP_473368.1:n.1012-138G>A