Canonical Allele Identifier: CA7603700

Gene: HERC1

Linked Data

• dbSNP Id: rs141533214
• ExAC: 15:63915901 C / G
• gnomAD v2: 15-63915901-C-G
• gnomAD v3: 15-63623702-C-G
• gnomAD v4: 15-63623702-C-G
• MyVariant Identifiers: chr15:g.63915901C>G (hg19) ; chr15:g.63623702C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.63623702C>G , CM000677.2:g.63623702C>G	GRCh38
NC_000015.9:g.63915901C>G , CM000677.1:g.63915901C>G	GRCh37
NC_000015.8:g.61702954C>G	NCBI36
NG_046958.1:g.215248G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000443617.7:c.13611+23G>C MANE Select	ENSP00000390158.2:n.13611+23G>C
ENST00000443617.6:c.13611+23G>C	ENSP00000390158.2:n.13611+23G>C
ENST00000558324.1:c.774+23G>C
NM_003922.3:c.13611+23G>C	NP_003913.3:n.13611+23G>C
XM_011522138.1:c.13689+23G>C	XP_011520440.1:n.13689+23G>C
XM_011522139.1:c.13689+23G>C	XP_011520441.1:n.13689+23G>C
XM_011522140.1:c.13689+23G>C	XP_011520442.1:n.13689+23G>C
XM_011522141.1:c.13686+23G>C	XP_011520443.1:n.13686+23G>C
XM_011522142.1:c.13686+23G>C	XP_011520444.1:n.13686+23G>C
XM_011522143.1:c.13686+23G>C	XP_011520445.1:n.13686+23G>C
XM_011522144.1:c.13668+23G>C	XP_011520446.1:n.13668+23G>C
XM_011522145.1:c.13665+23G>C	XP_011520447.1:n.13665+23G>C
XM_011522146.1:c.13662+23G>C	XP_011520448.1:n.13662+23G>C
XM_011522147.1:c.13638+23G>C	XP_011520449.1:n.13638+23G>C
XM_011522148.1:c.13689+23G>C	XP_011520450.1:n.13689+23G>C
XR_931932.1:n.13668+456G>C
XM_017022699.2:c.13755+23G>C	XP_016878188.1:n.13755+23G>C
XM_017022700.2:c.13719+23G>C	XP_016878189.1:n.13719+23G>C
XM_017022701.2:c.13704+23G>C	XP_016878190.1:n.13704+23G>C
XM_017022702.2:c.13704+23G>C	XP_016878191.1:n.13704+23G>C
XM_017022703.2:c.13701+23G>C	XP_016878192.1:n.13701+23G>C
XM_017022704.2:c.13683+23G>C	XP_016878193.1:n.13683+23G>C
XM_017022705.2:c.13677+23G>C	XP_016878194.1:n.13677+23G>C
NM_003922.4:c.13611+23G>C MANE Select	NP_003913.3:n.13611+23G>C