Canonical Allele Identifier: CA360805138

Gene: SLC22A5

Linked Data

• MyVariant Identifiers: chr5:g.131721118T>C (hg19) ; chr5:g.132385426T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132385426T>C , CM000667.2:g.132385426T>C	GRCh38
NC_000005.9:g.131721118T>C , CM000667.1:g.131721118T>C	GRCh37
NC_000005.8:g.131749017T>C	NCBI36
NG_008982.1:g.20718T>C
NG_008982.2:g.20723T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000415928.6:c.665+1112T>C	ENSP00000388838.2:n.665+1112T>C
ENST00000435065.7:c.823T>C	ENSP00000402760.2:p.Tyr275His
ENST00000448810.6:c.751T>C	ENSP00000401860.2:p.Tyr251His
ENST00000686757.1:c.770T>C	ENSP00000510721.1:p.Leu257Ser
ENST00000687740.1:n.1911T>C
ENST00000688151.1:n.1943T>C
ENST00000689271.1:c.671+1106T>C	ENSP00000510797.1:n.671+1106T>C
ENST00000690900.1:c.722T>C	ENSP00000510703.1:p.Leu241Ser
ENST00000692212.1:n.577T>C
ENST00000692355.1:c.204+1125T>C
ENST00000692413.1:c.770T>C	ENSP00000509374.1:p.Leu257Ser
ENST00000692825.1:c.819T>C	ENSP00000509447.1:n.819T>C
ENST00000693308.1:c.764T>C	ENSP00000509770.1:p.Leu255Ser
ENST00000693763.1:n.1911T>C
ENST00000245407.8:c.751T>C MANE Select	ENSP00000245407.3:p.Tyr251His
ENST00000245407.7:c.751T>C	ENSP00000245407.3:p.Tyr251His
ENST00000415928.5:c.520T>C	ENSP00000388838.1:p.Tyr174His
ENST00000435065.6:c.823T>C	ENSP00000402760.2:p.Tyr275His
ENST00000437841.6:c.*66T>C	ENSP00000400553.1:n.*66T>C
ENST00000448810.5:c.99T>C
ENST00000461013.5:n.8173T>C
NM_001308122.1:c.823T>C	NP_001295051.1:p.Tyr275His
NM_003060.3:c.751T>C	NP_003051.1:p.Tyr251His
XM_011543590.1:c.133T>C	XP_011541892.1:p.Tyr45His
XR_427718.1:n.1111T>C
XR_948290.1:n.1092T>C
XR_948291.1:n.1105T>C
XM_011543590.2:c.133T>C	XP_011541892.1:p.Tyr45His
XM_017009778.2:c.223T>C	XP_016865267.1:p.Tyr75His
XR_001742215.1:n.1092T>C
XR_001742216.1:n.1111T>C
XR_427718.2:n.1111T>C
XR_948290.2:n.1092T>C
XR_948291.2:n.1105T>C
NM_003060.4:c.751T>C MANE Select	NP_003051.1:p.Tyr251His
NM_001308122.2:c.823T>C	NP_001295051.1:p.Tyr275His