Canonical Allele Identifier: CA129538

Gene: KHDC3L

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.73362730A>G , CM000668.2:g.73362730A>G	GRCh38
NC_000006.11:g.74072453A>G , CM000668.1:g.74072453A>G	GRCh37
NC_000006.10:g.74129174A>G	NCBI36
NG_031942.1:g.5054A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370367.4:c.1A>G MANE Select	ENSP00000359392.3:p.Met1Val
ENST00000370367.3:c.1A>G	ENSP00000359392.3:p.Met1Val
NM_001017361.2:c.1A>G	NP_001017361.1:p.Met1Val
XM_006715351.2:c.1A>G	XP_006715414.1:p.Met1Val
NM_001017361.3:c.1A>G MANE Select	NP_001017361.1:p.Met1Val