Canonical Allele Identifier: CA359253846

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14769261C>G (hg19) ; chr5:g.14769152C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14769152C>G , CM000667.2:g.14769152C>G	GRCh38
NC_000005.9:g.14769261C>G , CM000667.1:g.14769261C>G	GRCh37
NC_000005.8:g.14822261C>G	NCBI36
NG_008273.1:g.107627G>C
NG_008273.2:g.107634G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.136G>C MANE Select	ENSP00000284268.6:p.Val46Leu
ENST00000284268.6:c.136G>C	ENSP00000284268.6:p.Val46Leu
ENST00000503389.1:n.142G>C
ENST00000513115.1:n.161G>C
NM_054027.4:c.136G>C	NP_473368.1:p.Val46Leu
XM_011514067.1:c.136G>C	XP_011512369.1:p.Val46Leu
NM_054027.5:c.136G>C	NP_473368.1:p.Val46Leu
XM_017009644.2:c.52G>C	XP_016865133.1:p.Val18Leu
NM_054027.6:c.136G>C MANE Select	NP_473368.1:p.Val46Leu