Canonical Allele Identifier: CA689737288

Gene: HIGD1C SLC11A2

Linked Data

• dbSNP Id: rs1474692987
• MyVariant Identifiers: chr12:g.51357553C>A (hg19) ; chr12:g.50963770C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.50963770C>A , CM000674.2:g.50963770C>A	GRCh38
NC_000012.11:g.51357553C>A , CM000674.1:g.51357553C>A	GRCh37
NC_000012.10:g.49643820C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000695929.1:c.*534+2668C>A	ENSP00000512272.1:n.*534+2668C>A
ENST00000695930.1:c.253+2668C>A (HIGD1C)	ENSP00000512273.1:n.253+2668C>A
ENST00000695931.1:c.229+2668C>A (HIGD1C) MANE Select	ENSP00000512274.1:n.229+2668C>A
ENST00000398455.3:c.229+2668C>A (HIGD1C)	ENSP00000381473.3:n.229+2668C>A
NM_001109619.1:c.229+2668C>A (HIGD1C)	NP_001103089.1:n.229+2668C>A
XM_011538648.1:c.544+2668C>A (HIGD1C)	XP_011536950.1:n.544+2668C>A
XM_011538649.1:c.229+2668C>A (HIGD1C)	XP_011536951.1:n.229+2668C>A
NM_001109619.2:c.229+2668C>A (HIGD1C)	NP_001103089.1:n.229+2668C>A
XM_011538649.2:c.229+2668C>A (HIGD1C)	XP_011536951.1:n.229+2668C>A
XM_017019783.2:c.373+2668C>A (HIGD1C)	XP_016875272.1:n.373+2668C>A
XM_017019784.2:c.373+2668C>A (HIGD1C)	XP_016875273.1:n.373+2668C>A
XM_017019785.1:c.253+2668C>A (HIGD1C)	XP_016875274.1:n.253+2668C>A
XR_001748720.1:n.1992-9962G>T (SLC11A2)
NM_001109619.3:c.229+2668C>A (HIGD1C)	NP_001103089.1:n.229+2668C>A
NM_001109619.4:c.229+2668C>A (HIGD1C) MANE Select	NP_001103089.1:n.229+2668C>A