Canonical Allele Identifier: CA414941577
Gene: SRY HGNC NCBI

Linked Data

dbSNP Id: rs2124486291

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787408C>A , CM000686.2:g.2787408C>A GRCh38
NC_000024.9:g.2655449C>A , CM000686.1:g.2655449C>A GRCh37
NC_000024.8:g.2715449C>A NCBI36
NG_011751.1:g.5344G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000679518.1:n.106+12669C>A
ENST00000679825.1:n.520C>A
ENST00000680285.1:n.320-2341C>A
ENST00000680845.1:n.166-72C>A
ENST00000681787.1:n.106+12669C>A
ENST00000681940.1:n.106+12669C>A
ENST00000383070.2:c.196G>T MANE Select ENSP00000372547.1:p.Ala66Ser
ENST00000383070.1:c.196G>T ENSP00000372547.1:p.Ala66Ser
NM_003140.2:c.196G>T NP_003131.1:p.Ala66Ser
NM_003140.3:c.196G>T MANE Select NP_003131.1:p.Ala66Ser