Canonical Allele Identifier: CA414941026

Gene: SRY

Linked Data

• MyVariant Identifiers: chrY:g.2655214A>G (hg19) ; chrY:g.2787173A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2787173A>G , CM000686.2:g.2787173A>G	GRCh38
NC_000024.9:g.2655214A>G , CM000686.1:g.2655214A>G	GRCh37
NC_000024.8:g.2715214A>G	NCBI36
NG_011751.1:g.5579T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679518.1:n.106+12434A>G
ENST00000679825.1:n.285A>G
ENST00000680285.1:n.320-2576A>G
ENST00000680845.1:n.165+120A>G
ENST00000681787.1:n.106+12434A>G
ENST00000681940.1:n.106+12434A>G
ENST00000383070.2:c.431T>C MANE Select	ENSP00000372547.1:p.Leu144Ser
ENST00000383070.1:c.431T>C	ENSP00000372547.1:p.Leu144Ser
NM_003140.2:c.431T>C	NP_003131.1:p.Leu144Ser
NM_003140.3:c.431T>C MANE Select	NP_003131.1:p.Leu144Ser