Canonical Allele Identifier: CA3209270

Gene: ANKH

Linked Data

• dbSNP Id: rs377376997
• ExAC: 5:14871557 A / G
• gnomAD v2: 5-14871557-A-G
• gnomAD v4: 5-14871448-A-G
• MyVariant Identifiers: chr5:g.14871557A>G (hg19) ; chr5:g.14871448A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871448A>G , CM000667.2:g.14871448A>G	GRCh38
NC_000005.9:g.14871557A>G , CM000667.1:g.14871557A>G	GRCh37
NC_000005.8:g.14924557A>G	NCBI36
NG_008273.1:g.5331T>C
NG_008273.2:g.5338T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.-1T>C MANE Select	ENSP00000284268.6:n.-1T>C
ENST00000284268.6:c.-1T>C	ENSP00000284268.6:n.-1T>C
ENST00000505140.1:c.-1T>C	ENSP00000426332.1:n.-1T>C
ENST00000513115.1:n.25T>C
NM_054027.4:c.-1T>C	NP_473368.1:n.-1T>C
XM_011514067.1:c.-1T>C	XP_011512369.1:n.-1T>C
NM_054027.5:c.-1T>C	NP_473368.1:n.-1T>C
NM_054027.6:c.-1T>C MANE Select	NP_473368.1:n.-1T>C