Canonical Allele Identifier: CA592300019

Gene: RSU1

Linked Data

• dbSNP Id: rs574275434
• gnomAD v2: 10-16744429-C-G
• gnomAD v3: 10-16702430-C-G
• gnomAD v4: 10-16702430-C-G
• MyVariant Identifiers: chr10:g.16744429C>G (hg19) ; chr10:g.16702430C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.16702430C>G , CM000672.2:g.16702430C>G	GRCh38
NC_000010.10:g.16744429C>G , CM000672.1:g.16744429C>G	GRCh37
NC_000010.9:g.16784435C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345264.10:c.599-7275G>C MANE Select	ENSP00000339521.5:n.599-7275G>C
ENST00000345264.9:c.599-7275G>C	ENSP00000339521.5:n.599-7275G>C
ENST00000377911.1:n.639-7275G>C
ENST00000377921.7:c.599-7275G>C	ENSP00000367154.3:n.599-7275G>C
ENST00000464074.6:n.665-7275G>C
ENST00000602389.1:c.440-7275G>C	ENSP00000473588.1:n.440-7275G>C
NM_012425.3:c.599-7275G>C	NP_036557.1:n.599-7275G>C
NM_152724.2:c.440-7275G>C	NP_689937.2:n.440-7275G>C
XM_005252552.2:c.598+50109G>C	XP_005252609.1:n.598+50109G>C
XM_011519613.1:c.449-7275G>C	XP_011517915.1:n.449-7275G>C
XM_005252552.4:c.598+50109G>C	XP_005252609.1:n.598+50109G>C
NM_012425.4:c.599-7275G>C MANE Select	NP_036557.1:n.599-7275G>C
NM_152724.3:c.440-7275G>C	NP_689937.2:n.440-7275G>C