Canonical Allele Identifier: CA359286182

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14871556T>G (hg19) ; chr5:g.14871447T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14871447T>G , CM000667.2:g.14871447T>G	GRCh38
NC_000005.9:g.14871556T>G , CM000667.1:g.14871556T>G	GRCh37
NC_000005.8:g.14924556T>G	NCBI36
NG_008273.1:g.5332A>C
NG_008273.2:g.5339A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000284268.8:c.1A>C MANE Select	ENSP00000284268.6:p.Met1Leu
ENST00000284268.6:c.1A>C	ENSP00000284268.6:p.Met1Leu
ENST00000505140.1:c.1A>C	ENSP00000426332.1:p.Met1Leu
ENST00000513115.1:n.26A>C
NM_054027.4:c.1A>C	NP_473368.1:p.Met1Leu
XM_011514067.1:c.1A>C	XP_011512369.1:p.Met1Leu
NM_054027.5:c.1A>C	NP_473368.1:p.Met1Leu
NM_054027.6:c.1A>C MANE Select	NP_473368.1:p.Met1Leu