Canonical Allele Identifier: CA359245561

Gene: ANKH

Linked Data

• MyVariant Identifiers: chr5:g.14741953T>A (hg19) ; chr5:g.14741844T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.14741844T>A , CM000667.2:g.14741844T>A	GRCh38
NC_000005.9:g.14741953T>A , CM000667.1:g.14741953T>A	GRCh37
NC_000005.8:g.14794953T>A	NCBI36
NG_008273.1:g.134935A>T
NG_008273.2:g.134942A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000284268.8:c.994A>T MANE Select	ENSP00000284268.6:p.Met332Leu
ENST00000284268.6:c.994A>T	ENSP00000284268.6:p.Met332Leu
ENST00000503939.5:n.506A>T
ENST00000515517.1:n.228A>T
NM_054027.4:c.994A>T	NP_473368.1:p.Met332Leu
XM_011514067.1:c.994A>T	XP_011512369.1:p.Met332Leu
NM_054027.5:c.994A>T	NP_473368.1:p.Met332Leu
XM_017009644.2:c.910A>T	XP_016865133.1:p.Met304Leu
NM_054027.6:c.994A>T MANE Select	NP_473368.1:p.Met332Leu