Canonical Allele Identifier: CA408084612

Gene: SLC4A11

Linked Data

• gnomAD v4: 20-3228271-A-G
• MyVariant Identifiers: chr20:g.3208917A>G (hg19) ; chr20:g.3228271A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.3228271A>G , CM000682.2:g.3228271A>G	GRCh38
NC_000020.10:g.3208917A>G , CM000682.1:g.3208917A>G	GRCh37
NC_000020.9:g.3156917A>G	NCBI36
NG_017072.1:g.15971T>C
NG_012093.2:g.24405A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000642402.1:c.2546T>C MANE Select	ENSP00000493503.1:p.Met849Thr
ENST00000644011.1:c.2477T>C	ENSP00000496214.1:p.Met826Thr
ENST00000644692.1:c.2345T>C	ENSP00000493824.1:p.Met782Thr
ENST00000647296.1:c.2432T>C	ENSP00000495050.1:p.Met811Thr
ENST00000380056.7:c.2594T>C	ENSP00000369396.3:p.Met865Thr
ENST00000380059.7:c.2675T>C	ENSP00000369399.3:p.Met892Thr
ENST00000474451.5:c.*694T>C	ENSP00000476859.1:n.*694T>C
ENST00000539553.6:c.2546T>C	ENSP00000441370.1:p.Met849Thr
NM_001174089.1:c.2546T>C	NP_001167560.1:p.Met849Thr
NM_001174090.1:c.2675T>C	NP_001167561.1:p.Met892Thr
NM_032034.3:c.2594T>C	NP_114423.1:p.Met865Thr
XM_005260856.3:c.2915T>C	XP_005260913.1:p.Met972Thr
XM_005260857.1:c.2489T>C	XP_005260914.1:p.Met830Thr
XM_011529383.1:c.2513T>C	XP_011527685.1:p.Met838Thr
XM_011529384.1:c.2489T>C	XP_011527686.1:p.Met830Thr
XM_011529385.1:c.2489T>C	XP_011527687.1:p.Met830Thr
XR_937167.1:n.2644T>C
NM_001363745.1:c.2432T>C	NP_001350674.1:p.Met811Thr
NR_135000.1:n.2644T>C
XM_005260856.5:c.2915T>C	XP_005260913.1:p.Met972Thr
XM_011529383.3:c.2513T>C	XP_011527685.1:p.Met838Thr
XM_017028093.1:c.2909T>C	XP_016883582.1:p.Met970Thr
XM_017028094.1:c.2489T>C	XP_016883583.1:p.Met830Thr
XM_017028096.1:c.2489T>C	XP_016883585.1:p.Met830Thr
XR_001754419.1:n.3089T>C
XR_001754420.2:n.3069T>C
NM_001174089.2:c.2546T>C MANE Select	NP_001167560.1:p.Met849Thr
NM_001363745.2:c.2432T>C	NP_001350674.1:p.Met811Thr
NM_001174090.2:c.2675T>C	NP_001167561.1:p.Met892Thr
NM_032034.4:c.2594T>C	NP_114423.1:p.Met865Thr
NM_001400277.1:c.2489T>C	NP_001387206.1:p.Met830Thr
NM_001400278.1:c.2489T>C	NP_001387207.1:p.Met830Thr
NM_001400279.1:c.2489T>C	NP_001387208.1:p.Met830Thr
NM_001400280.1:c.2561T>C	NP_001387209.1:p.Met854Thr
NR_174470.1:n.3069T>C
NR_174471.1:n.3054T>C