Canonical Allele Identifier: CA414940651

Gene: SRY

Linked Data

• MyVariant Identifiers: chrY:g.2655050T>C (hg19) ; chrY:g.2787009T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2787009T>C , CM000686.2:g.2787009T>C	GRCh38
NC_000024.9:g.2655050T>C , CM000686.1:g.2655050T>C	GRCh37
NC_000024.8:g.2715050T>C	NCBI36
NG_011751.1:g.5743A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000679518.1:n.106+12270T>C
ENST00000679825.1:n.121T>C
ENST00000680285.1:n.320-2740T>C
ENST00000680845.1:n.121T>C
ENST00000681787.1:n.106+12270T>C
ENST00000681940.1:n.106+12270T>C
ENST00000383070.2:c.595A>G MANE Select	ENSP00000372547.1:p.Ser199Gly
ENST00000383070.1:c.595A>G	ENSP00000372547.1:p.Ser199Gly
NM_003140.2:c.595A>G	NP_003131.1:p.Ser199Gly
NM_003140.3:c.595A>G MANE Select	NP_003131.1:p.Ser199Gly