Canonical Allele Identifier: CA558015980

Gene: ANKH

Linked Data

• dbSNP Id: rs1170267793
• gnomAD v2: 5-14871375-A-G
• gnomAD v4: 5-14871266-A-G
• MyVariant Identifiers: chr5:g.14871375A>G (hg19) ; chr5:g.14871266A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871266A>G , CM000667.2:g.14871266A>G	GRCh38
NC_000005.9:g.14871375A>G , CM000667.1:g.14871375A>G	GRCh37
NC_000005.8:g.14924375A>G	NCBI36
NG_008273.1:g.5513T>C
NG_008273.2:g.5520T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.96+86T>C MANE Select	ENSP00000284268.6:n.96+86T>C
ENST00000284268.6:c.96+86T>C	ENSP00000284268.6:n.96+86T>C
ENST00000505140.1:c.182T>C	ENSP00000426332.1:p.Leu61Pro
ENST00000513115.1:n.121+86T>C
NM_054027.4:c.96+86T>C	NP_473368.1:n.96+86T>C
XM_011514067.1:c.96+86T>C	XP_011512369.1:n.96+86T>C
NM_054027.5:c.96+86T>C	NP_473368.1:n.96+86T>C
NM_054027.6:c.96+86T>C MANE Select	NP_473368.1:n.96+86T>C