Canonical Allele Identifier: CA391240625

Gene: ADSS1

Linked Data

• gnomAD v2: 14-105207521-G-C
• gnomAD v4: 14-104741184-G-C
• COSMIC: COSM6025542
• MyVariant Identifiers: chr14:g.105207521G>C (hg19) ; chr14:g.105207521_105207522delinsCC (hg19) ; chr14:g.104741184G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741184G>C , CM000676.2:g.104741184G>C	GRCh38
NC_000014.8:g.105207521G>C , CM000676.1:g.105207521G>C	GRCh37
NC_000014.7:g.104278566G>C	NCBI36
NG_051175.1:g.21988G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710323.1:c.734G>C	ENSP00000518203.1:p.Gly245Ala
ENST00000330877.7:c.734G>C MANE Select	ENSP00000331260.2:p.Gly245Ala
ENST00000330877.6:c.734G>C	ENSP00000331260.2:p.Gly245Ala
ENST00000332972.9:c.863G>C	ENSP00000333019.5:p.Gly288Ala
ENST00000553540.5:c.846G>C	ENSP00000450759.1:n.846G>C
ENST00000555486.5:c.799G>C	ENSP00000473778.1:n.799G>C
ENST00000557582.5:n.1655G>C
NM_152328.3:c.734G>C	NP_689541.1:p.Gly245Ala
NM_199165.1:c.863G>C	NP_954634.1:p.Gly288Ala
XM_006720026.2:c.737G>C	XP_006720089.1:p.Gly246Ala
XM_011536412.1:c.866G>C	XP_011534714.1:p.Gly289Ala
XM_011536413.1:c.551G>C	XP_011534715.1:p.Gly184Ala
XM_011536414.1:c.548G>C	XP_011534716.1:p.Gly183Ala
XM_011536415.1:c.119G>C	XP_011534717.1:p.Gly40Ala
NM_001320424.1:c.119G>C	NP_001307353.1:p.Gly40Ala
NM_152328.4:c.734G>C	NP_689541.1:p.Gly245Ala
NM_199165.2:c.863G>C	NP_954634.1:p.Gly288Ala
XM_006720026.3:c.737G>C	XP_006720089.1:p.Gly246Ala
XM_011536412.2:c.866G>C	XP_011534714.1:p.Gly289Ala
XR_001750917.1:n.525C>G
NM_152328.5:c.734G>C MANE Select	NP_689541.1:p.Gly245Ala