Canonical Allele Identifier: CA1073473693

Gene: ANKH

Linked Data

• dbSNP Id: rs1367047082
• gnomAD v3: 5-14871485-C-G
• gnomAD v4: 5-14871485-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871485C>G , CM000667.2:g.14871485C>G	GRCh38
NC_000005.9:g.14871594C>G , CM000667.1:g.14871594C>G	GRCh37
NC_000005.8:g.14924594C>G	NCBI36
NG_008273.1:g.5294G>C
NG_008273.2:g.5301G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-38G>C MANE Select	ENSP00000284268.6:n.-38G>C
ENST00000284268.6:c.-38G>C	ENSP00000284268.6:n.-38G>C
ENST00000505140.1:c.-38G>C	ENSP00000426332.1:n.-38G>C
NM_054027.4:c.-38G>C	NP_473368.1:n.-38G>C
XM_011514067.1:c.-38G>C	XP_011512369.1:n.-38G>C
NM_054027.5:c.-38G>C	NP_473368.1:n.-38G>C
NM_054027.6:c.-38G>C MANE Select	NP_473368.1:n.-38G>C