Canonical Allele Identifier: CA414941202

Gene: SRY

Linked Data

• gnomAD v3: Y-2787248-A-C
• gnomAD v4: Y-2787248-A-C
• MyVariant Identifiers: chrY:g.2655289A>C (hg19) ; chrY:g.2787248A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.2787248A>C , CM000686.2:g.2787248A>C	GRCh38
NC_000024.9:g.2655289A>C , CM000686.1:g.2655289A>C	GRCh37
NC_000024.8:g.2715289A>C	NCBI36
NG_011751.1:g.5504T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000679518.1:n.106+12509A>C
ENST00000679825.1:n.360A>C
ENST00000680285.1:n.320-2501A>C
ENST00000680845.1:n.165+195A>C
ENST00000681787.1:n.106+12509A>C
ENST00000681940.1:n.106+12509A>C
ENST00000383070.2:c.356T>G MANE Select	ENSP00000372547.1:p.Met119Arg
ENST00000383070.1:c.356T>G	ENSP00000372547.1:p.Met119Arg
NM_003140.2:c.356T>G	NP_003131.1:p.Met119Arg
NM_003140.3:c.356T>G MANE Select	NP_003131.1:p.Met119Arg