Canonical Allele Identifier: CA605020268

Gene: HIGD1C SLC11A2

Linked Data

• dbSNP Id: rs1256911218
• gnomAD v2: 12-51357603-T-C
• gnomAD v3: 12-50963820-T-C
• gnomAD v4: 12-50963820-T-C
• MyVariant Identifiers: chr12:g.51357603T>C (hg19) ; chr12:g.50963820T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.50963820T>C , CM000674.2:g.50963820T>C	GRCh38
NC_000012.11:g.51357603T>C , CM000674.1:g.51357603T>C	GRCh37
NC_000012.10:g.49643870T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000695929.1:c.*534+2718T>C	ENSP00000512272.1:n.*534+2718T>C
ENST00000695930.1:c.253+2718T>C (HIGD1C)	ENSP00000512273.1:n.253+2718T>C
ENST00000695931.1:c.229+2718T>C (HIGD1C) MANE Select	ENSP00000512274.1:n.229+2718T>C
ENST00000398455.3:c.229+2718T>C (HIGD1C)	ENSP00000381473.3:n.229+2718T>C
NM_001109619.1:c.229+2718T>C (HIGD1C)	NP_001103089.1:n.229+2718T>C
XM_011538648.1:c.544+2718T>C (HIGD1C)	XP_011536950.1:n.544+2718T>C
XM_011538649.1:c.229+2718T>C (HIGD1C)	XP_011536951.1:n.229+2718T>C
NM_001109619.2:c.229+2718T>C (HIGD1C)	NP_001103089.1:n.229+2718T>C
XM_011538649.2:c.229+2718T>C (HIGD1C)	XP_011536951.1:n.229+2718T>C
XM_017019783.2:c.373+2718T>C (HIGD1C)	XP_016875272.1:n.373+2718T>C
XM_017019784.2:c.373+2718T>C (HIGD1C)	XP_016875273.1:n.373+2718T>C
XM_017019785.1:c.253+2718T>C (HIGD1C)	XP_016875274.1:n.253+2718T>C
XR_001748720.1:n.1992-10012A>G (SLC11A2)
NM_001109619.3:c.229+2718T>C (HIGD1C)	NP_001103089.1:n.229+2718T>C
NM_001109619.4:c.229+2718T>C (HIGD1C) MANE Select	NP_001103089.1:n.229+2718T>C