Canonical Allele Identifier: CA414940879
Gene: SRY HGNC NCBI

Linked Data

dbSNP Id: rs2051122546
gnomAD v3: Y-2787108-C-T
gnomAD v4: Y-2787108-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.2787108C>T , CM000686.2:g.2787108C>T GRCh38
NC_000024.9:g.2655149C>T , CM000686.1:g.2655149C>T GRCh37
NC_000024.8:g.2715149C>T NCBI36
NG_011751.1:g.5644G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000679518.1:n.106+12369C>T
ENST00000679825.1:n.220C>T
ENST00000680285.1:n.320-2641C>T
ENST00000680845.1:n.165+55C>T
ENST00000681787.1:n.106+12369C>T
ENST00000681940.1:n.106+12369C>T
ENST00000383070.2:c.496G>A MANE Select ENSP00000372547.1:p.Asp166Asn
ENST00000383070.1:c.496G>A ENSP00000372547.1:p.Asp166Asn
NM_003140.2:c.496G>A NP_003131.1:p.Asp166Asn
NM_003140.3:c.496G>A MANE Select NP_003131.1:p.Asp166Asn