Canonical Allele Identifier: CA14434976

Gene: RARA

Linked Data

• dbSNP Id: rs74453681
• gnomAD v2: 17-38470142-G-C
• gnomAD v3: 17-40313890-G-C
• gnomAD v4: 17-40313890-G-C
• MyVariant Identifiers: chr17:g.38470142G>C (hg19) ; chr17:g.40313890G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40313890G>C , CM000679.2:g.40313890G>C	GRCh38
NC_000017.10:g.38470142G>C , CM000679.1:g.38470142G>C	GRCh37
NC_000017.9:g.35723668G>C	NCBI36
NG_027701.1:g.9720G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254066.10:c.-363+4604G>C MANE Select	ENSP00000254066.5:n.-363+4604G>C
ENST00000254066.9:c.-363+4604G>C	ENSP00000254066.5:n.-363+4604G>C
ENST00000577646.5:c.-440+4604G>C	ENSP00000464287.1:n.-440+4604G>C
NM_000964.3:c.-363+4604G>C	NP_000955.1:n.-363+4604G>C
XM_011525095.1:c.-440+4604G>C	XP_011523397.1:n.-440+4604G>C
NM_000964.4:c.-363+4604G>C MANE Select	NP_000955.1:n.-363+4604G>C