Canonical Allele Identifier: CA391240547

Gene: ADSS1

Linked Data

• MyVariant Identifiers: chr14:g.105207506A>C (hg19) ; chr14:g.104741169A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.104741169A>C , CM000676.2:g.104741169A>C	GRCh38
NC_000014.8:g.105207506A>C , CM000676.1:g.105207506A>C	GRCh37
NC_000014.7:g.104278551A>C	NCBI36
NG_051175.1:g.21973A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710323.1:c.719A>C	ENSP00000518203.1:p.Tyr240Ser
ENST00000330877.7:c.719A>C MANE Select	ENSP00000331260.2:p.Tyr240Ser
ENST00000330877.6:c.719A>C	ENSP00000331260.2:p.Tyr240Ser
ENST00000332972.9:c.848A>C	ENSP00000333019.5:p.Tyr283Ser
ENST00000553540.5:c.831A>C	ENSP00000450759.1:n.831A>C
ENST00000555486.5:c.784A>C	ENSP00000473778.1:n.784A>C
ENST00000557582.5:n.1640A>C
NM_152328.3:c.719A>C	NP_689541.1:p.Tyr240Ser
NM_199165.1:c.848A>C	NP_954634.1:p.Tyr283Ser
XM_006720026.2:c.722A>C	XP_006720089.1:p.Tyr241Ser
XM_011536412.1:c.851A>C	XP_011534714.1:p.Tyr284Ser
XM_011536413.1:c.536A>C	XP_011534715.1:p.Tyr179Ser
XM_011536414.1:c.533A>C	XP_011534716.1:p.Tyr178Ser
XM_011536415.1:c.104A>C	XP_011534717.1:p.Tyr35Ser
NM_001320424.1:c.104A>C	NP_001307353.1:p.Tyr35Ser
NM_152328.4:c.719A>C	NP_689541.1:p.Tyr240Ser
NM_199165.2:c.848A>C	NP_954634.1:p.Tyr283Ser
XM_006720026.3:c.722A>C	XP_006720089.1:p.Tyr241Ser
XM_011536412.2:c.851A>C	XP_011534714.1:p.Tyr284Ser
XR_001750917.1:n.540T>G
NM_152328.5:c.719A>C MANE Select	NP_689541.1:p.Tyr240Ser