Canonical Allele Identifier: CA359245562

Gene: ANKH

Linked Data

• dbSNP Id: rs1738367938
• gnomAD v4: 5-14741844-T-G
• MyVariant Identifiers: chr5:g.14741953T>G (hg19) ; chr5:g.14741844T>G (hg38)

Genomic Alleles

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

Transcript Alleles

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