Canonical Allele Identifier: CA337437889

Gene: SRY

Linked Data

• dbSNP Id: rs1019354171
• gnomAD v2: Y-2655094-G-A
• MyVariant Identifiers: chrY:g.2655094G>A (hg19) ; chrY:g.2787053G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2787053G>A , CM000686.2:g.2787053G>A	GRCh38
NC_000024.9:g.2655094G>A , CM000686.1:g.2655094G>A	GRCh37
NC_000024.8:g.2715094G>A	NCBI36
NG_011751.1:g.5699C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000679518.1:n.106+12314G>A
ENST00000679825.1:n.165G>A
ENST00000680285.1:n.320-2696G>A
ENST00000680845.1:n.165G>A
ENST00000681787.1:n.106+12314G>A
ENST00000681940.1:n.106+12314G>A
ENST00000383070.2:c.551C>T MANE Select	ENSP00000372547.1:p.Pro184Leu
ENST00000383070.1:c.551C>T	ENSP00000372547.1:p.Pro184Leu
NM_003140.2:c.551C>T	NP_003131.1:p.Pro184Leu
NM_003140.3:c.551C>T MANE Select	NP_003131.1:p.Pro184Leu