Canonical Allele Identifier: CA114720455

Gene: ANKH

Linked Data

• dbSNP Id: rs530663406
• gnomAD v3: 5-14717003-T-C
• gnomAD v4: 5-14717003-T-C
• MyVariant Identifiers: chr5:g.14717112T>C (hg19) ; chr5:g.14717003T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14717003T>C , CM000667.2:g.14717003T>C	GRCh38
NC_000005.9:g.14717112T>C , CM000667.1:g.14717112T>C	GRCh37
NC_000005.8:g.14770112T>C	NCBI36
NG_008273.1:g.159776A>G
NG_008273.2:g.159783A>G
NG_051625.1:g.61210T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1012-168A>G MANE Select	ENSP00000284268.6:n.1012-168A>G
ENST00000284268.6:c.1012-168A>G	ENSP00000284268.6:n.1012-168A>G
ENST00000502585.1:n.86A>G
NM_054027.4:c.1012-168A>G	NP_473368.1:n.1012-168A>G
NM_054027.5:c.1012-168A>G	NP_473368.1:n.1012-168A>G
XM_017009644.2:c.928-168A>G	XP_016865133.1:n.928-168A>G
NM_054027.6:c.1012-168A>G MANE Select	NP_473368.1:n.1012-168A>G