Canonical Allele Identifier: CA645273484

Gene: SRY

Linked Data

• dbSNP Id: rs1453811348
• gnomAD v2: Y-2655025-T-A
• MyVariant Identifiers: chrY:g.2655025T>A (hg19) ; chrY:g.2786984T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2786984T>A , CM000686.2:g.2786984T>A	GRCh38
NC_000024.9:g.2655025T>A , CM000686.1:g.2655025T>A	GRCh37
NC_000024.8:g.2715025T>A	NCBI36
NG_011751.1:g.5768A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679518.1:n.106+12245T>A
ENST00000679825.1:n.107-11T>A
ENST00000680285.1:n.320-2765T>A
ENST00000680845.1:n.107-11T>A
ENST00000681787.1:n.106+12245T>A
ENST00000681940.1:n.106+12245T>A
ENST00000383070.2:c.*5A>T MANE Select	ENSP00000372547.1:n.*5A>T
ENST00000383070.1:c.*5A>T	ENSP00000372547.1:n.*5A>T
NM_003140.2:c.*5A>T	NP_003131.1:n.*5A>T
NM_003140.3:c.*5A>T MANE Select	NP_003131.1:n.*5A>T